Abstract: This invention is related to novel non-nucleic acid probes, probe sets, methods and kits pertaining to the detection, identification or quantitation of human chromosomes X, Y, 1, 2, 3, 4, 6, 7, 8, 9, 10, 11, 12, 13, 16, 17, 18, 20 and/or 21. The non-nucleic acid probes, probe sets, methods and kits of this invention are particularly well suited for use in multiplex ISH and FISH assays wherein each of chromosomes X, Y, 1, 2, 3, 4, 6, 7, 8, 9, 10, 11, 12, 16, 17, 18 and/or 20, as well as 13/21 as a pair, in a sample or cell can be individually detected, identified or quantitated in the same assay. Multiplex ISH and FISH assays are possible because two or more of the probes used in the assay are labeled with one or more independently detectable labels. Preferably, the independently detectable labels are independently detectable fluorophores.

Abstract: Disclosed is a method of detecting a trinucleotide repeat expansion by in situ hybridization. The disclosed method uses a sample of nucleated cells, a labeled trinucleotide repeat-specific probe and detection of the hybridized probe by a means whose sensitivity distinguishes between the signal from probes hybridized to an expanded repeat and the signal from probes hybridized to a non-expanded repeat.